Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population

Muzammil Ahmad Khan; Jasmin Blatterer; Markus Kuster; Lukas Kaufmann; Peter M. Kroisel; John B. Vincent; Muhammad Zubair; Muhammad Muzammal; Nisar Ahmad; Shakil Abbas; Wasim Shah; Muhammad Zeeshan Ali; Muhammad Sajid Hussain; Holger Thiele; Peter Nürnberg; Klaus Wagner; Christian Windpassinger